NG08467
DNA from Fibroblast
Description:
HUTCHINSON-GILFORD PROGERIA SYNDROME; HGPS
|
Repository
|
NIA Aging Cell Culture Repository
|
| Subcollection |
Heritable Diseases |
| Quantity |
10 µg |
| Quantitation Method |
Please see our FAQ |
|
Biopsy Source
|
Gum
|
|
Cell Type
|
Fibroblast
|
|
Tissue Type
|
Gingival
|
|
Transformant
|
Untransformed
|
|
Sample Source
|
DNA from Fibroblast
|
|
Race
|
White
|
|
Family Member
|
1
|
|
Relation to Proband
|
proband
|
|
Confirmation
|
Clinical summary/Case history
|
|
Species
|
Homo sapiens
|
|
Common Name
|
Human
|
|
Remarks
|
|
| Remarks |
Donor showed loss of subcutaneous fat, a beak nose, osteoarthritis, venous prominence, and an elevated urinary glucosaminoglycan level, but no alopecia. Low weight and dislocated hips present at birth. Marfan features have also developed. The biopsy was taken ante-mortem on 10/25/85. The culture was initiated using explants of minced gingival tissue. The cell morphology is fibroblast-like. A skin fibroblast culture from same donor is AG08466. |
| Csoka AB, Cao H, Sammak PJ, Constantinescu D, Schatten GP, Hegele RA, Novel lamin A/C gene (LMNA) mutations in atypical progeroid syndromes. J Med Genet41(4):304-8 2004 |
| PubMed ID: 15060110 |
|
|